NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000040365.7
Allele description [Variation Report for NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)]
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
LOC642696 (0)
Conserved Domains
-
Sequence 14024 from patent US 9827332
Sequence 14024 from patent US 9827332gi|1342857745|gb|AVC75870.1||pat|US 332|14024Protein
-
RecName: Full=Chalcone--flavanone isomerase; Short=Chalcone isomerase
RecName: Full=Chalcone--flavanone isomerase; Short=Chalcone isomerasegi|122233481|sp|Q45QI7.2|CFI_CAMSIProtein
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See more...Assertion and evidence details
Last Updated: May 1, 2024